First off was a visit with Dr. Danielle Ledoux at Children's Hospital on Monday. She is a fantastic eye doctor! We previously saw an eye doctor at Tufts Medical Center, but she was much more personable and took the time to explain Ocular Albinism in more detail and answer some questions for me. The visit started out with a vision test having Connor locate various black and white squares on a larger rectangular type plate. Some were thick black and white stripes whereas others were very fine lines. He seemed to do fairly well with this test as I could see him scanning and searching for the image. The doctor briefly looked into his eyes and the put the drops in to dilate the pupils. Connor and I went back to the waiting room for 20 minutes and he spent the entire time crawling up and down the hallways like he was in a race! She looked into the back of his eyes and then sat down with me for a discussion.
Dr. Ledoux explained that Connor does most definitely have Ocular Albisim and recommends that we see a doctor in genetics. There is a possibility that Connor has Hermansky-Pudlak Syndrome which characteristics include Ocular Albinism and Low Blood Platelets. We had already discussed this with Genetics when we first got the diagnoses and were told that the genetic testing is very expensive at this point and would not be covered by insurance because if the doctors see that he has Ocular Albinism then he has it and there really aren't any other medical symptoms other than the eyes. I would definitely like to pursue it some more to get some questions answered, but we have as I said we have lots of appointments coming up so we will probably hold off for now!
The doctor advised that she gets a slightly different prescription for glasses than his current pair, HOWEVER, she does not feel is is absolutely necessary for him to wear glasses at this point. She said he is nearsighted and will need them as he gets a bit older, but at this point he sees his best when objects are within 2 feet and at his age most things he would need to see would be in that range. This was fantastic news for me because it is such a struggle to keep his glasses on! I know we are just putting it off for now, but at least we know we are not hurting him by not forcing the issue.
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